Also part of the UPMC family:

Laboratory Services at the Center for Medical Genetics

UPMC Content 3

The laboratories serving the Center for Medical Genetics and Genomics take pride in offering genetic laboratory services at the highest level of quality while keeping test prices at the most competitive level.

All labs are successfully accredited by Clinical Laboratory Improvement Amendments (CLIA) and the College of American Pathologists (CAP) and licensed by the Commonwealth of Pennsylvania Department of Health.

The Pittsburgh Cytogenetic Laboratory (PCL)

Through the use of both traditional cytogenetic techniques as well as molecular cytogenetics by fluorescent in situ hybridization (FISH), the Pittsburgh Cytogenetic Laboratory (PCL) performs chromosome studies on a wide variety of specimens.

Cytogenetic studies are performed for prenatal diagnosis to look for causes of birth defects and/or intellectual disability in childhood, to explore the cause of infertility or pregnancy loss, and to diagnose and/or monitor hematologic/oncologic disorders. Please contact the PCL for specimen handling instructions.

Specimen Types

  • Amniotic fluid
  • Chorionic villi
  • Peripheral blood
  • Tissue (products of conception)
  • Bone marrow
  • Tumor

Fluorescent in situ hybridization (FISH)

  • Aneuploidy
  • HER2-Neu (breast cancer)
  • Microdeletion syndromes
  • Subtelomere studies
  • Oncology probes/panels
  • Micro array CGH (send-out)

Requisition forms

The Pregnancy Screening Laboratory (PSL)

Most tests are done to see if you have a particular disease or condition. These are called diagnostic tests. A screening test is different. Screening tests show if a person’s risk is high or low for a specific disease or condition. If the risk is high, a person can then choose to have diagnostic testing.

The Pregnancy Screening Laboratory (PSL) offers state-of-the-art testing for identifying pregnancies at increased risk for chromosome conditions such as Down syndrome (trisomy 21) or trisomy 18, or open neural tube defects, such as spina bifida or anencephaly.

The PSL offers screening tests in both the first and second trimester of pregnancy.

Our experienced staff takes great care in interpreting the results of testing and communicating these results to the referring physician. In the event of a positive screening test (increased risk), our genetic counselors are available to discuss with the parents the decision to have further testing.

This decision should be based on a number of factors, including the risk of birth defects and the risks of the procedure.

The PSL performs the following testing (please contact the PSL for specimen handling instructions):

Tests performed

  • First trimester screening (PAPP-A, hCG, nuchal translucency)
  • Quad screen (AFP, hCG, uE3, Inhibin-A)
  • Amniotic fluid AFP
  • Amniotic fluid AchE

Requisition forms

  • First Trimester Screening Requisition
  • Multiple Marker Screening Requisition

The Division of Molecular Diagnostics

The Division of Molecular Diagnostics is part of the Department of Pathology at UPMC. The division performs testing on a variety of sample types over a wide range of diseases. It offers 60 different tests and processes more than 25,000 samples each year in infectious diseases, genetics, and cancer diagnostics.